This website provides information on patients with variants in the DCT (dopachrome tautomerase) gene, including clinical data, molecular data, management and research options.
The disease caused by variants in the DCT gene is oculocutaneous albinism type 8 (OCA8), characterized by:
- moderate hypopigmentation of the skin, hair and eye
- increased risk of skin cancer
- classical ocular features encountered in all forms of albinism, including
• nystagmus
• foveal hypoplasia
• iris transillumination
• retinal hypopigmentation
• reduced visual acuity
• photophobia
• strabismus
• ametropia
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the DCT gene.
Benoit Arveiler, PhD, PharmD, Bordeaux University Hospital, University of Bordeaux, Bordeaux, France, benoit.arveiler@chu-bordeaux.fr
Sophie Javerzat, PhD, University of Bordeaux, Bordeaux, France, sophie.javerat@u-bordeaux.fr